Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

• Hoofdauteurs: Verity Hartill (Auteur), Katarzyna Szymanska (Auteur), Saghira Malik Sharif (Auteur), Gabrielle Wheway (Auteur), Colin A. Johnson (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2017-11-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Meckel-Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathie...